ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2919C>T (p.Tyr973=) (rs181161119)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000322377 SCV000345813 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
Invitae RCV001079416 SCV000555840 likely benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566804 SCV000672930 likely benign Hereditary cancer-predisposing syndrome 2017-06-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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